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authFullName_s : Muriel Houang
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Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

Elodie Fiot , Bertille Alauze , Bruno Donadille , Dinane Samara-Boustani , Muriel Houang , et al.
Orphanet Journal of Rare Diseases, 2022, 17 (S1), pp.261. ⟨10.1186/s13023-022-02423-5⟩
Journal articles inserm-04031866v1
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Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit

Bruno Donadille , Muriel Houang , Irène Netchine , Jean-Pierre Siffroi , Sophie Christin-Maitre
Endocrine Connections, 2018, 7 (3), pp.395-402. ⟨10.1530/EC-17-0306⟩
Journal articles inserm-03867576v1

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias

Matthieu Peycelon , Lamisse Mansour-Hendili , Capucine Hyon , Nathalie Collot , Muriel Houang , et al.
Sexual Development, 2018, 11 (5-6), pp.293-297. ⟨10.1159/000485909⟩
Journal articles inserm-03837653v1
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Combining metabolomics and machine learning models as a tool to distinguish non-classic 21-hydroxylase deficiency from polycystic ovary syndrome without adrenocorticotropic hormone testing

Guillaume Bachelot , Anne Bachelot , Marion Bonnier , Joe-Elie Salem , Dominique Farabos , et al.
Human Reproduction, 2023, 38 (2), pp.266-276. ⟨10.1093/humrep/deac254⟩
Journal articles hal-03996582v1

Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study

Matthieu Peycelon , Nathalie Lelong , Léa Carlier , M. Francesca Monn , Aliénor de Chalus , et al.
Journal of Urology, 2020, 203 (5), pp.1017-1023. ⟨10.1097/JU.0000000000000708⟩
Journal articles hal-03009486v1

Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome)

Sophie Christin-Maitre , Maria Givony , Frédérique Albarel , Anne Bachelot , Maud Bidet , et al.
Annales d'Endocrinologie, 2021, 82 (6), pp.555-571. ⟨10.1016/j.ando.2021.09.001⟩
Journal articles inserm-03856183v1

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

Sébastien Albert , Hélène Blons , Laurence Jonard , Delphine Feldmann , Pierre Chauvin , et al.
European Journal of Human Genetics, 2006, 14 (6), pp.773-9. ⟨10.1038/sj.ejhg.5201611⟩
Journal articles inserm-00102388v1
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Increasing knowledge in IGF1R defects: lessons from 35 new patients

Eloïse Giabicani , Marjolaine Willems , Virginie Steunou , Sandra Chantot-Bastaraud , Nathalie Thibaud , et al.
Journal of Medical Genetics, In press, ⟨10.1136/jmedgenet-2019-106328⟩
Journal articles hal-02435128v1